Canonical Allele Identifier: CA402148649
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412454
ClinVar RCV Id: RCV001943201
dbSNP Id: rs2073312094
gnomAD v3: 18-31546523-T-C
gnomAD v4: 18-31546523-T-C
MyVariant Identifiers: chr18:g.29126486T>C (hg19) chr18:g.31546523T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546523T>C , CM000680.2:g.31546523T>C GRCh38
NC_000018.9:g.29126486T>C , CM000680.1:g.29126486T>C GRCh37
NC_000018.8:g.27380484T>C NCBI36
NG_007072.3:g.53282T>C , LRG_397:g.53282T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3137T>C (DSG2) MANE Select ENSP00000261590.8:p.Val1046Ala
ENST00000261590.12:c.3137T>C (DSG2) ENSP00000261590.8:p.Val1046Ala
NM_001943.3:c.3137T>C , LRG_397t1:c.3137T>C (DSG2) NP_001934.2:p.Val1046Ala
NR_045216.1:n.1346-617A>G (DSG2-AS1)
NM_001943.4:c.3137T>C (DSG2) NP_001934.2:p.Val1046Ala
XM_024451095.1:c.2603T>C (DSG2) XP_024306863.1:p.Val868Ala
NM_001943.5:c.3137T>C (DSG2) MANE Select NP_001934.2:p.Val1046Ala
Search 100 bp 5'
Search 100 bp 3'